Canonical Allele Identifier: CA724735907
Community Standard Title: NM_002661.5(PLCG2):c.3053-16T>C
Gene: PLCG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81937742T>C , CM000678.2:g.81937742T>C GRCh38
NC_000016.9:g.81971347T>C , CM000678.1:g.81971347T>C GRCh37
NC_000016.8:g.80528848T>C NCBI36
NG_032019.2:g.203646T>C , LRG_376:g.203646T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002661.5:c.3053-16T>C MANE Select NP_002652.2:n.3053-16T>C
ENST00000564138.6:c.3053-16T>C MANE Select ENSP00000482457.1:n.3053-16T>C
NM_002661.4:c.3053-16T>C NP_002652.2:n.3053-16T>C
ENST00000359376.7:c.3053-16T>C ENSP00000352336.4:n.3053-16T>C
ENST00000563269.2:n.1228-16T>C
ENST00000564138.5:c.3053-16T>C ENSP00000482457.1:n.3053-16T>C
ENST00000567373.5:n.396T>C
ENST00000570198.2:n.2171-16T>C
ENST00000697562.1:c.*1913-16T>C ENSP00000513338.1:n.*1913-16T>C
ENST00000697563.1:c.*2899-16T>C ENSP00000513339.1:n.*2899-16T>C
ENST00000697564.1:c.2936-16T>C ENSP00000513340.1:n.2936-16T>C
ENST00000697581.1:c.*3047-16T>C ENSP00000513346.1:n.*3047-16T>C
ENST00000697582.1:c.*335-16T>C ENSP00000513347.1:n.*335-16T>C
ENST00000697583.1:c.2852-16T>C ENSP00000513349.1:n.2852-16T>C
ENST00000697584.1:c.2852-16T>C ENSP00000513350.1:n.2852-16T>C
ENST00000697585.1:c.2852-16T>C ENSP00000513351.1:n.2852-16T>C
ENST00000697586.1:c.2852-16T>C ENSP00000513352.1:n.2852-16T>C
ENST00000697587.1:c.2852-16T>C ENSP00000513353.1:n.2852-16T>C
XM_011523108.1:c.3167-16T>C XP_011521410.1:n.3167-16T>C